Associated Papers
Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity.
Bonetti G et al.
Journal of Clinical Medicine, 2022
36556146 (PubMed )
Supplement: jcm-11-07531-s001.zip › jcm-2023798-supplementary.pdf
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L et al.
Genes, 2021
Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.
Hartin SN et al.
Molecular Genetics & Genomic Medicine, 2019
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Leitch CC et al.
Nature Genetics, 2008
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